R27S (p.Arg27Ser) variant of ACAT1 (P24752)
R27S (p.Arg27Ser) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- gnomAD 11-108131915-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.18
- CADD 17.10
- PolyPhen-2 0.04
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available